I fa hian heng symptoms te hi a nei em? Smith-Magenis Syndrome chungchang hi i zir dawn teh ang!

I fate hmasawnna leh nungchang chungchangah hian zawhna tlem tal i nei fo thin em? Kan fate nun tichhe thei, thil awm lo, mahse pawimawh tak tak a awm a. Vawiin hian mi tam takin an hriat ngai loh, mahse hriat hlawh tak dinhmun kan sawi dawn a ni. Hei hi Smith-Magenis Syndrome an ti a.

Smith-Magenis Syndrome hi eng nge ni tak tak?

A awlsam zawngin sawi ila, Smith-Maginnis syndrome hi naupang taksa peng hrang hranga nghawng nei, hmasawnna lam natna a ni. Intellectual disability a thlen ber a, chu chu zirlai lama harsatna a ni. Chu bâkah, heng naupangte hian hmêl lan dân danglam tak, nungchang lama harsatna, a bîk takin mut lama harsatna nei an nei thei bawk.

Kan taksa hi cell te tak te atanga siam a ni tih han ngaihtuah teh. Heng cell te hian instruction book ang chi thil an nei a, chu chu kan DNA a ni. Kan genes te hi he DNA hmun thenkhatah hian chromosomes an tih ah hian dahkhawm a ni. Smith-Magnis syndrome hi nausen pian tirh lamah DNA atanga gene pawimawh tak pakhat kengtu chromosome atanga a te tak te tak te tihbo a nih hian a awm thin. Hei hian taksa hnathawh hrang hrang a nghawng a ni.

He natna hi tuin nge nei thei ang? Engtiang chiahin nge a hluar?

Smith-Magenis Syndrome hian tu pawh a nghawng thei a ni. Nausen naupai lai te, nu egg leh pa sperm te inzawmkhawm a, genetic change (spontaneous or "de novo" mutation) a lo awm tlangpui. Chumi awmzia chu a tam zawkah chuan chhungkaw zingah tumahin he natna hi an la nei lo tihna a ni.

Mahse, a tlem hle, chu chu a tlem hle tihna a ni, naupangin he dinhmun hi an nu leh pate hnen atangin a rochun thei a ni. Engtin nge i hriat? A châng chuan nu leh pa zinga pakhatin symptoms nei lo mah se, an sex cell (egg emaw sperm emaw) chauh hian he genetic change hi a nei thei a ni. Taksa cell dangte hian he inthlak danglamna hi an nei lo. Hei hi germline mosaicism an ti a. Mahse hei hi a tlem hle.

He natna hi a hluar zia ngaihtuah chuan, Smith-Maginnis syndrome hian khawvel puma mi 15,000 atanga 25,000 zinga pakhat vel a vei a ni. Hei hian a awmzia chu a tlem hle tihna a ni.

Hei hi eng symptoms nge ni? Tlem i hrilhfiah thei ang em?

Smith-Magenis Syndrome natna lan chhuah dan hi naupang hrang hrangah a inang lo thei a, a nasat dan chu a na lo atanga a nasat thlengin a awm thei bawk. Heng symptoms te hian naupang taksa chhunga system hrang hrang a nghawng a ni.

Thinlung leh taksa lam mizia

• Intellectual disability: Hei hi thil langsar tak a ni. Zirna thiamna leh hriatthiamna ang chi thilah hian tihkhawtlai emaw harsatna emaw a awm thei.
• Short stature: Kum inang naupang dang aiin a tawi zawk thei.
• Scoliosis: A ruh chu a sir lam hawiin a inher chhuak tih hmuh theih a ni.
• Natna emaw, lumna emaw hriatna tihtlem: Naupang thenkhat chuan natna an nei lo emaw, midang angin lum leh vawt nasa takin an hre lo thei bawk.
• Raspy emaw hoarse voice: Aw inthlak danglamna a awm thei.
• Hriatna leh/ emaw mit hmuhna lama harsatna: Hriatna lama harsatna, mitdelna (e.g., glasses vuah ngai) a awm thei.
• Taksa rihna sang lutuk: Taksa rihna hi a tul lovah a pung thei a, a bik takin tleirawl lai hian.

Nausen laia hmuh theih symptoms

Nausen lai pawhin symptom thenkhat a lang thei:

• Weak muscle tone / `hypotonia`: Naute taksa chu a hlim deuh thei.
• Hmasawnna tihkhawtlai: Kum nena inmil thil tih, lu vawn, inher, leh thut te chu tihkhawtlai a ni thei.
• Reflexes tha lo: Automatic response thenkhat chu a tichhe thei.
• Chaw pek kawngah harsatna: Naute hian hnute lak emaw, ei emaw a harsat thei.
• Tap fo: Naute dang aiin a tap fo thei.
• Mut rei leh nilengin mutthilh theih loh.

Hmai lam chi hrang hrang

Smith-Maginnis syndrome vei naupangte hian hmai chi hrang hrang an nei a . Chungte chu naupang chu a lo upa deuh deuh a, middle childhood-ah a lang tlangpui.

• A hmai chu square ang maia siam a ni
• A hmui a khat
• Mit sunken tak a ni
• Chhuk lam hawia hmui / frown
• Hnar bridge flat tak a ni
• Lower jaw, chu chu chin atanga chhuak chu a chhuak deuh a ni.

Hetianga hmai pianzia avang hian naupang thenkhat pawhin ha lam natna an nei thei bawk.

Mut harsatna a awm

Hei hi nu leh pa tam tak tan chuan harsatna a ni. Smith-Maginnis syndrome vei naute, naupang tê tê, leh puitlingte chuan mut harsatna chi hrang hrang an nei .

• Mut mut harsat leh muthilh reng.
• Nitin mutthilh lutuk tih hriat.
• Zanah harh fo thin.

Heng mut dan inthlak danglamna hi kan taksaa mut tidanglamtu hormone melatonin secretion pattern inthlak danglamna nen a inzawm tih hmuhchhuah a ni.

Emotion leh nungchang nena inzawm mizia

Hêng naupangte rilru put hmang leh nungchangah hian thil chiang tak tak ṭhenkhat pawh hmuh theih a ni bawk:

• Mihring hmangaihna nei tak: Hmangaihna nei tak takin a awm thei.
• Mahni inkuah: Mahni inkuah lai hmuh tur a awm fo.
• Thinrim emaw, chhuak fo emaw.
• Aggressive behaviors: Mahni intihhlum (e.g., kut/kut seh, lu beng) emaw midang vuak ang chi thil.

A châng chuan, heng naupangte hian nungchang dang, ADHD (Attention-Deficit/Hyperactivity Disorder) emaw, Autism Spectrum Disorder emaw te pawh an nei thei bawk.

Symptom na tak tak hmuh tur a awm lo

A tlem hle, na tak takah chuan naupang thinlung leh kal hnathawh pawh a nghawng thei bawk. Seizures pawh a awm thei bawk.

Engvangin nge Smith-Magenis Syndrome hi a lo awm? Eng nge a chhan?

Hetiang dinhmun kan neih chhan ber chu kan genetic system inthlak danglam vang a ni. A dik tak chuan `RAI1` (`retinoic acid-induced 1 gene`) tih gene a awm a, chu gene a inthlak danglamna chu a chhan a ni. He `RAI1` gene hian kan taksa chhunga cell te hna hrang hrang thawk tura zirtirtu protein a siam chhuak thin a ni. He gene hi hriat chian tawk ni lo mah se, zirchianna atanga a lan dan chuan he gene hi naupang taksa peng hrang hrang thanlenna leh hnathawhna atana pawimawh tak a ni. Chuvangin he syndrome symptoms hi a darh zau em em a ni.

A tam zawkah chuan, chu chu Smith-Maginnis syndrome vei naupang 90% vel ah chuan RAI1 gene awmna chromosome 17 (chromosome 17) kut tawi (p) thenkhat chu a bo (deletion) (location 17p11.2 ah). He deletion hi a takin emaw de novo emaw a thleng a, chu chu nau pai laiin nu egg leh pa sperm an inzawm khawm hian a ni.

A tlem hle a, chromosome segment te hi embryonic development hmasa berah hian a inthen a, a inher kual (translocation) thei. Naupang dang 10% ah chuan RAI1 gene bo ai chuan gene ngeiah mutation a awm a ni . Hei hian chu genetic location bikah chuan naupang DNA structure a tidanglam a ni.

Engtin nge he natna hi hriat chhuah a nih? (Diagnosis) tih a ni.

Smith-Magenis Syndrome hi naupan laia hmuhchhuah a ni tlangpui a, chutih lai chuan a natna lan chhuah dan a lang chiang zawk. I fa doctor chuan i fa natna lan chhuah dan a zawt ang che a, medical history kimchang a la ang a, i fa chu a enfiah ang.

Hetiang dinhmun hi finfiah nan leh natna dang, symptom inang nei te pawh paih chhuah nan hian genetic blood test neih a pawimawh hle.

Smith-Magenis Syndrome hi eng enkawlna nge ni?

He natna enkawlnaah hian naupang natna lan chhuah dan tihziaawmna leh a theih ang anga nunpui tura puih hi a pawimawh ber a ni. Naupang hrang hrangah enkawl dan a inang lo thei.

Damdawi hman tlanglawn thenkhat chu hetiang hi a ni:

• Naupang chu kum 3 a tlin hmaa early intervention programme-ah leh kum 3 a tlin hnuah zirna programme-ah refer a, hengte hian naupang chu hmasawnna leh zirna lama thil pawimawh tak takte hneh turin a pui a ni.
• Naupang chu in lamah leh khawtlang nunah nasa taka a tel theih nan fuih rawh.
• Outpatient therapies neih theihna . Entir nan:
• Thusawi leh tawng hmanga enkawlna
• Thiltih dan hmanga enkawlna
• Taksa lam enkawlna
• Occupational therapy hmanga enkawlna
• Coexisting condition dang symptoms, ADHD emaw mut harsatna emaw te tan damdawi pek.
• Mit lama harsatna nei tan glasses vuah.
• Beng natna laka invenna tur leh hriatna hloh enfiah nan ear tube surgery hmanga dah.
• Ei leh in hrisel, inthlau tak vawng reng la, taksa rihna tihtlem nan exercise neih fo bawk ang che.

I fa doctor chuan i fa mamawh ang zela mimal enkawlna ruahmanna a siam ang.

Enkawlna group

Hêng naupangte hian an taksa peng hrang hrang tichhe thei symptom an neih avângin, enkawlnaah hian doctor leh health professional hrang hrang team a ngai thei a ni . He team hian:

• Naupang enkawltu leh naupang lam thiam dangte
• Surgeon (a tul chuan) .
• Mit lam doctor
• Audiologist a ni
• Psychologist a ni
• Ei leh in lama mithiam
• Thusawi lam natna (Speech pathologist) a ni
• Occupational therapist leh taksa lam enkawltu te an ni

Melatonin hian mut harsatnaah a pui em?

Melatonin hi kan taksain a siam chhuah hormone a ni a, muthilh theih nan min pui thin. Melatonin supplement hian i fa chu a muhil thei a, an mut leh harh cycle a tidanglam thei bawk. I fain Smith-Magnis syndrome avanga mut harsatna a neih chuan i doctor nen mut hmain melatonin supplement pek dan tur sawipui la, chu chuan zan mut hahdam turin a pui ang che. Mahse, i doctor zawt hmasa lovin engmah tan tir suh, okay?

Hetiang dinhmun hi ven theih a ni em?

Vanduaithlak takin Smith-Magenis Syndrome hi ven theih a ni lo.Hei hi genetic condition a nih avangin naupang DNA-a inthlak danglamna hi random leh hriat lawk loh takin a thleng thin. Mahse, naupangin a natna lan chhuah dan a enkawl theih nan leh nun famkim a neih theih nan damdawi lam, taksa leh nungchang lama hmalakna tam tak a awm a ni.

Ka fa hian hetiang dinhmun hi a nei a nih chuan eng nge ka beisei theih ang? (Prognosis) tih a ni.

Naupangin Smith-Maginnis syndrome a neih chuan a hmalam hun tur chu a natna lan chhuah dan nasat danah a innghat a ni. He natna vei ṭhenkhat chu chhungte, ṭhiante, leh enkawltute ṭanpuina tlemte chauh neiin eng emaw chen chu mahni inrintawkna neiin an khawsa thei a ni. Tin, dam chhung pangngaiin an khawsa thei bawk.

Mahse, naupang ṭhenkhat chuan an dam chhûngin ṭanpuina tam zâwk an mamawh mai thei. Group setting emaw, residential care community emaw-a awm chu an tha zawk mai thei. Naupang chu nun hrisel leh hlim taka a awm theih nan dam chhung zawnga symptom management leh preventive care an mamawh dawn a ni.

Smith-Magenis Syndrome hi a dam kim thei ang em?

Ni lo, Smith-Magenis Syndrome hi naupang DNA-a random changes avanga lo awm a nih avangin a dam kim thei lo . Mahse, i fate medical team chuan an dam chhung zawnga symptoms enkawlna atana pui turin mimal enkawlna kawng hrang hrang an pe ang.

Engtik lai nge doctor pan i mamawh?

I fain heng symptoms te hi a lan chhuah chuan doctor pan nghal rawh:

• Naupang chu mahni intihhlum emaw, a chetsual lutuk emaw a nih chuan.
• Kum nena inmil hmasawnna milestone te a tlakchham chuan.
• In leh/ emaw sikulah lungngaihna emaw, chak lohna emaw i lantir a nih chuan.
• Zana mut theih loh emaw, nilenga muhil harsa i tih chuan.

Engtikah nge Emergency Treatment Unit (ETU) ah i kal a ngaih ?

Hetiang dinhmunah hian emergency room-ah kal nghal rawh:

• Naupangin seizure a neih chuan.
• Heartbeat a mumal lo a nih chuan.
• Naupangin chaw a ei loh emaw, tui a tlakchham anga a lan emaw chuan.

Doctor hnena zawh tur pawimawhte chu engte nge ni?

Doctor i tlawh hunah hetiang zawhna hi i zawt thei ang:

• Engtin nge ka fa chu ka enkawl ang?
• Ka fain hmasawnna kawng a zawh loh chuan eng nge ka tih ang?
• Eng symptom nge ka hriat bik tur?
• Engtin nge ka fa chu a thinrim lai hian ka humhim theih ang?
• Enkawlna atana rawtna siamte hian side effect a nei em?

A tawp berah chuan Take-Home Message kan rawn thawn leh ta

I fain he hmasawnna dinhmun hi a nei tih hriat chu a buaithlak thei hle. A pangngai hle mai. Nangmah chauh i ni lo. Hetiang natna vei naupang nu leh pa leh enkawltute inkhawmna support group-a tel hian chakna nasa tak, thu hriatna leh thil tawn insemna a pe thei che a ni.

Smith-Magenis Syndrome hi damdawi awm lo mah se, i fate’n an theihna zawng zawng a thlen theih nan leh an natna lan chhuah dan tur a enkawl theih nan dam chhung zawnga puihna a awm a ni. Hemi kawngah hian i fa medical team te chuan an kaihruai ang che. Beidawng suh!

` Smith-Magenis Syndrome, Smith-Magenis Syndrome, genetic disease, hmasawnna tlai, nungchang lama harsatna, mut harsatna, RAI1 gene